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锰超氧化物歧化酶和过氧化氢酶基因多态性:香港华裔哮喘患者的功能研究

Polymorphisms in manganese superoxide dismutase and catalase genes: functional study in Hong Kong Chinese asthma patients.

作者信息

Mak J C W, Leung H C M, Ho S P, Ko F W S, Cheung A H K, Ip M S M, Chan-Yeung M M W

机构信息

Division of Respiratory and Critical Care Medicine, Department of Medicine, The University of Hong Kong, Hong Kong, SAR, China.

出版信息

Clin Exp Allergy. 2006 Apr;36(4):440-7. doi: 10.1111/j.1365-2222.2006.02458.x.

Abstract

BACKGROUND

Reactive oxygen species may contribute to the pathogenesis of asthma. Functional genetic polymorphisms of antioxidant enzymes, superoxide dismutase (SOD) and catalase are good candidates for asthma susceptibility.

OBJECTIVE

To investigate the association of the manganese-containing form of SOD (MnSOD) gene at amino acid position 16 (Val16Ala) and catalase gene in the promoter at A-21T and C-262T polymorphisms and asthma in a Hong Kong Chinese population.

METHODS

The association study was conducted in a case-control design in asthma patients (n=251) and healthy controls (n=316) by genotyping. The functional significance was assessed by determining erythrocyte SOD and catalase activity.

RESULTS

The Val allele of MnSOD at Val16Ala and the A allele of catalase gene at A-21T were not different between patients and controls, while the C allele of catalase gene at C-262T was found to be significantly different between patients and controls (P=0.033). The less frequent variant of catalase gene (-262T) was found to be protective from the development of asthma in a Hong Kong Chinese non-smoking population (adjusted odds ratio=0.35, 0.15-0.85; P=0.017). Asthma patients had elevated erythrocyte SOD and catalase activities in comparison with healthy controls (P<0.01). However, their activities were not associated with different genotypes within healthy controls or asthma patients.

CONCLUSION

This is the first report showing that SOD and catalase functional activities are not associated with their respective genetic polymorphisms but related to the presence of asthma in a Hong Kong Chinese population.

摘要

背景

活性氧可能参与哮喘的发病机制。抗氧化酶超氧化物歧化酶(SOD)和过氧化氢酶的功能基因多态性是哮喘易感性的良好候选因素。

目的

在香港华人人群中研究含锰形式的SOD(MnSOD)基因第16位氨基酸(Val16Ala)以及过氧化氢酶基因启动子区A-21T和C-262T多态性与哮喘的关联。

方法

采用病例对照设计,对哮喘患者(n = 251)和健康对照者(n = 316)进行基因分型,以进行关联研究。通过测定红细胞SOD和过氧化氢酶活性评估其功能意义。

结果

MnSOD基因Val16Ala位点的Val等位基因以及过氧化氢酶基因A-21T位点的A等位基因在患者和对照者之间无差异,而过氧化氢酶基因C-262T位点的C等位基因在患者和对照者之间存在显著差异(P = 0.033)。在香港华人非吸烟人群中,过氧化氢酶基因较少见的变异体(-262T)对哮喘的发生具有保护作用(校正比值比 = 0.35,0.15 - 0.85;P = 0.017)。与健康对照者相比,哮喘患者的红细胞SOD和过氧化氢酶活性升高(P < 0.01)。然而,在健康对照者或哮喘患者中,它们的活性与不同基因型无关。

结论

这是首次报道表明SOD和过氧化氢酶的功能活性与其各自的基因多态性无关,而是与香港华人人群中哮喘的存在有关。

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